| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Deafness_IsolatedAndComplex v1.320 | IARS2 | Zornitza Stark Marked gene: IARS2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v1.320 | IARS2 | Zornitza Stark Gene: iars2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v1.320 | IARS2 |
Zornitza Stark changed review comment from: Cataracts are a core feature of the condition. Sources: Literature; to: Deafness is a core feature of the condition. Sources: Literature |
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| Deafness_IsolatedAndComplex v1.320 | Zornitza Stark Copied gene IARS2 from panel Cataract | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v1.320 | IARS2 |
Zornitza Stark gene: IARS2 was added gene: IARS2 was added to Deafness_IsolatedAndComplex. Sources: Expert Review Green,Literature Mode of inheritance for gene: IARS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IARS2 were set to 39994538; 36704128; 30419932; 29914532; 28328135; 27078007 Phenotypes for gene: IARS2 were set to Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia, MIM# 616007 |
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